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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BPIFA2 Gene

protein-coding   GIFtS: 40
GCID: GC20P031750

BPI fold containing family A, member 2

(Previous name: chromosome 20 open reading frame 70 )
(Previous symbol: C20orf70)
 Explore 1 disease affiliated with
BPIFA2 via our new
 Human Malady Compendium 
Biological research products
for BPIFA2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
BPI Fold Containing Family A, Member 21 2     Parotid Secretory Protein2 3
C20orf701 2 3     Short Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 22 3
PSP1 2 3     Chromosome 20 Open Reading Frame 701
SPLUNC21 2 3     BPI Fold-Containing Family A Member 22
BA49G10.11     Short Palate, Lung And Nasal Epithelium Carcinoma Associated 22

External Ids:    HGNC: 162031   Entrez Gene: 1406832   Ensembl: ENSG000001310507   UniProtKB: Q96DR53   

Export aliases for BPIFA2 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BPIFA2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BPIFA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.21   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.21

BPIFA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BPIFA2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P031750:  view genomic region     (about GC identifiers)

Start:
31,749,574 bp from pter      End:
31,769,223 bp from pter
Size:
19,650 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BPIA2_HUMAN, Q96DR5 (See protein sequence)
Recommended Name: BPI fold-containing family A member 2 precursor  
Size: 249 amino acids; 27011 Da
Subcellular location: Secreted (By similarity)
Secondary accessions: Q9BQQ0

Explore the universe of human proteins at neXtProt for BPIFA2: NX_Q96DR5

BPIFA2 Protein expression data from MOPED and PaxDb:    About this image 
BPIFA2 Protein Expression

REFSEQ proteins: NP_542141.1  
ENSEMBL proteins: 
 ENSP00000253362   ENSP00000347012  

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Uscn Proteins for BPIFA2

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

BPIFA2 for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BPIFA2 for domains           About GeneDecksing

2 InterPro domains/families:
 IPR017942 Lipid-bd_serum_glycop_N
 IPR017943 Bactericidal_perm-incr_a/b_dom

Graphical View of Domain Structure for InterPro Entry Q96DR5

ProtoNet protein and cluster: Q96DR5

UniProtKB/Swiss-Prot: BPIA2_HUMAN, Q96DR5
Similarity: Belongs to the BPI/LBP/Plunc superfamily. Plunc family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008289lipid binding IEA--
     
BPIFA2 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for BPIFA2:
 Synthetic lethal with Ras 

Animal Models:
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BPIFA2 

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BPIFA2

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for BPIFA2
Search CenterWatch for drugs/clinical trials and news about BPIFA2 / BPIA2 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BPIFA2 gene: 
NM_080574.2  

Unigene Cluster for BPIFA2:

BPI fold containing family A, member 2
Hs.125960  [show with all ESTs]
Unigene Representative Sequence: AK291854
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000253362 ENST00000354932(uc002wyo.1)

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Additional cDNA sequence: 

AF432917.1 AK291854.1 AY359055.1 BC065726.1 

4 DOTS entries:

DT.100670702  DT.100798293  DT.100798295  DT.65287480 

24/63 AceView cDNA sequences (see all 63):

AK130550 CA311567 AI002928 BX279895 BX484489 BC065726 CB959442 AA693448 
NM_080574 AF432917 CB985761 BX485066 CB956408 CB985333 CB986542 BX487606 
CB986486 CB957423 BX485187 CB955995 AY359055 CB956014 CB985631 CB959287 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BPIFA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGATTGGTT
BPIFA2 Expression
About this image
See BPIFA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BPIFA2

SOURCE GeneReport for Unigene cluster: Hs.125960

UniProtKB/Swiss-Prot: BPIA2_HUMAN, Q96DR5
Tissue specificity: Detected in submandibular gland

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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for BPIFA2 gene from 1/5 species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Bpifa21 , 5 BPI fold containing family A, member 21, 5 58(n)1
36.32(a)1
  2 (76.15 cM)5
191941  NM_008953.21  NP_032979.11 
 1540082655 


ENSEMBL Gene Tree for BPIFA2 (if available)
TreeFam Gene Tree for BPIFA2 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/358 NCBI SNPs in BPIFA2 are shown (see all 358    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1454592331,2
C--31754069(+) CTGCCC/TGCCTC 1 -- us2k10--------
rs1488312171,2
--31754168(+) CCATAC/GTAAAG 1 -- us2k10--------
rs1164738091,2
F--31754197(+) ACCATC/GGTAAG 1 -- us2k11Minor allele frequency- G:0.03WA 118
rs1179318331,2
F--31754219(+) TGCGCA/GCATAT 1 -- us2k11Minor allele frequency- G:0.05NA 120
rs60591341,2
C,F,A,H--31754236(+) GCATCT/ATCTTC 1 -- us2k117Minor allele frequency- A:0.16NS EA NA CSA WA 2165
rs1117774191,2
--31754258(+) TGTTGC/TCGTGC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
rs1811282831,2
--31754271(+) CATGGA/GCCTAC 1 -- us2k10--------
rs1856150911,2
--31754291(+) AGCCTA/TCATGG 1 -- us2k10--------
rs60874601,2
H--31754305(+) ttacaC/Ataatt 1 -- us2k14Minor allele frequency- A:0.00NS EA 418
rs1901753121,2
--31754327(+) CATGCC/TCTTGA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for BPIFA2 (31749574 - 31769223 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for BPIFA2: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BPIFA2 for disorders           About GeneDecksing

1 disease for BPIFA2:    About MalaCards
carcinoma


Export disorders for BPIFA2 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for BPIFA2 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with BPIFA2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx. (PubMed id 11971875)1, 2, 3 Bingle C.D. and Craven C.J. (2002)
  2. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)1, 2 Ramachandran P....Loo J.A. (2006)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
  5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  6. Human parotid secretory protein is a lipopolysacchari de-binding protein: identification of an anti-inflammatory peptide domain. (PubMed id 21833535)1 Abdolhosseini M....Gorr S.U. (2012)
  7. Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily. (PubMed id 21787333)1 Bingle C.D....Craven C.J. (2011)
  8. Characterisation and expression of SPLUNC2, the human orthologue of rodent parotid secretory protein. (PubMed id 19499239)1 Bingle L....Bingle C.D. (2009)
  9. Expression of PLUNC family members in benign and malignant salivary gland tumours. (PubMed id 18221458)1 Vargas P.A....Bingle L. (2008)
  10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 140683 HGNC: 16203 AceView: C20orf70 Ensembl:ENSG00000131050 euGenes: HUgn140683
ECgene: BPIFA2 H-InvDB: BPIFA2

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for BPIFA2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for BPIFA2 gene:
Search GeneIP for patents involving BPIFA2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section

 
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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